Variant report

Variant	rs1234834
Chromosome Location	chr2:190676895-190676896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190666669..190670194-chr2:190675101..190678586,3	MCF-7	breast:
2	chr2:190675814..190678803-chr2:190682468..190684983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10197331	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10207346	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210345	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1055091	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931430	0.84[EUR][1000 genomes]
rs10931431	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931433	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1132360	0.81[EUR][1000 genomes]
rs11679767	0.82[EUR][1000 genomes]
rs11685425	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1233245	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1233262	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233265	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233272	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233282	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233284	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233288	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233291	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233297	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233299	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233302	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471217	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12693551	0.82[EUR][1000 genomes]
rs12693557	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12990627	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992061	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13002216	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009889	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13011710	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13026135	0.81[AMR][1000 genomes]
rs13035966	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1437891	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1899025	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017410	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2033746	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2033870	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2164832	0.86[EUR][1000 genomes]
rs2289226	0.81[EUR][1000 genomes]
rs3816196	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4525728	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667297	0.82[EUR][1000 genomes]
rs4667299	0.83[EUR][1000 genomes]
rs5742938	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5743061	0.84[AMR][1000 genomes]
rs5743063	0.81[AMR][1000 genomes]
rs6738042	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741074	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7571089	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591929	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7592066	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595020	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs893784	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3080	chr2:190661654-190706515	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1234834	ASNSD1	cis	Artery Tibial	GTEx
rs1234834	ASNSD1	cis	Whole Blood	GTEx
rs1234834	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs1234834	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs1234834	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs1234834	ASNSD1	cis	Thyroid	GTEx
rs1234834	ASNSD1	cis	Nerve Tibial	GTEx
rs1234834	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs1234834	ORMDL1	cis	Heart Left Ventricle	GTEx
rs1234834	ORMDL1	cis	Artery Tibial	GTEx
rs1234834	ORMDL1	cis	Muscle Skeletal	GTEx
rs1234834	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs1234834	ASNSD1	cis	Artery Aorta	GTEx
rs1234834	ASNSD1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:190650400-190686800	Weak transcription	Thymus	Thymus
4	chr2:190650400-190688400	Weak transcription	Colonic Mucosa	Colon
5	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:190650600-190683200	Weak transcription	Fetal Brain Male	brain
8	chr2:190650600-190688800	Weak transcription	Fetal Heart	heart
9	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
11	chr2:190656200-190677800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:190656800-190685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:190659000-190685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:190659200-190681200	Weak transcription	Spleen	Spleen
17	chr2:190659800-190686800	Weak transcription	Fetal Stomach	stomach
18	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:190662600-190683000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:190662600-190686800	Weak transcription	Left Ventricle	heart
22	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:190663000-190682600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:190663000-190682800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:190663000-190683000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:190663000-190685600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
28	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
29	chr2:190663200-190683000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:190663400-190683400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:190664600-190680000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:190664600-190683600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:190664800-190686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:190665000-190683000	Weak transcription	HUVEC	blood vessel
38	chr2:190665000-190684400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:190665000-190696600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:190666600-190683600	Strong transcription	HSMM	muscle
41	chr2:190667400-190683200	Weak transcription	NHLF	lung
42	chr2:190667600-190683600	Weak transcription	HMEC	breast
43	chr2:190667800-190686800	Weak transcription	Pancreas	Pancrea
44	chr2:190668400-190684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:190669400-190683800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:190669400-190686800	Weak transcription	Lung	lung
47	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:190669600-190679400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:190669600-190713200	Weak transcription	Ovary	ovary

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